Details of Disease

General Information of Disease (ID: DIS5GATC)

• Disease Name: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
• Synonyms: CIIP; intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement; Ipox; CIIP X-linked; intestinal pseudoobstruction neuronal chronic idiopathic X-linked; CIIPX; Ciip, X-linked; congenital idiopathic intestinal pseudoobstruction; congenital short bowel syndrome, X-linked; intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; intestinal pseudoobstruction, neuronal, X-linked recessive; congenital short bowel syndrome, X-linked recessive
• Definition: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISR68AN: Chronic intestinal pseudoobstruction
  DIS2A1HB: Congenital short bowel syndrome
  DISBBY0S: Idiopathic disease
  DIS5GATC: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
• Disease Identifiers:
  MONDO ID: MONDO_0010232
  MESH ID: C535532
  UMLS CUI: C2746068
  OMIM ID: 300048
  MedGen ID: 412536

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FLNA	TTSTRZY	Strong	Biomarker	[1]
FLNA	TTSTRZY	Definitive	X-linked	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLNA	OTYZ9JXM	Definitive	X-linked	[2]

References

• [1] Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.Eur J Hum Genet. 2009 Apr;17(4):434-43. doi: 10.1038/ejhg.2008.192. Epub 2008 Oct 15.
• [2] The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet. 1996 Apr;58(4):743-8.